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Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene
Open accessAbstract
Human iris color was one of the first traits for which Mendelian segregation was established. To date, the genetics of iris color is still not fully understood and is of interest, particularly in view of forensic applications. In three independent genome-wide association (GWA) studies of a total of 1406 persons and a genome-wide linkage study of 1292 relatives, all from the Netherlands, we found that the 15q13.1 region is the predominant region involved in human iris color. There were no other regions showing consistent genome-wide evidence for association and linkage to iris color. Single nucleotide polymorphisms (SNPs) in the HERC2 gene and, to a lesser extent, in the neighboring OCA2 gene were independently associated to iris color variation. OCA2 has been implicated in iris color previously. A replication study within two populations confirmed that the HERC2 gene is a new and significant determinant of human iris color variation, in addition to OCA2. Furthermore, HERC2 rs916977 showed a clinal allele distribution across 23 European populations, which was significantly correlated to iris color variation. We suggest that genetic variants regulating expression of the OCA2 gene exist in the HERC2 gene or, alternatively, within the 11.7 kb of sequence between OCA2 and HERC2, and that most iris color variation in Europeans is explained by those two genes. Testing markers in the HERC2-OCA2 region may be useful in forensic applications to predict eye color phenotypes of unknown persons of European genetic origin.
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“This eye color locus was later refined to a small region 50 kb upstream of OCA2 in an intron of the HERC2 gene [7], [8], [10].”
From Genetic Architecture of Skin and Eye Color in an African-European Admixed Population (2013) · cites this paper as [7]
In the citing paper
“In humans, it has been implicated in iris, skin, and hair pigmentation (Duffy et al. 2007; Sturm et al. 2008; Kayser et al. 2008; Sulem et al. 2007).”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Kayser et al. 2008
In the citing paper
“Two other SNPs, rs916977 and rs1667394, have previously been associated with blue eyes (Kayser et al. 2008; Sulem et al. 2007).”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Kayser et al. 2008
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“Several sites in and around OCA2 have been reported to be the functional variant or to be tightly linked to the functional variant leading to blue eyes. These sites include a three-SNP haplotype (rs4778138, rs4778241, rs7495174) and four individual SNPs, rs1129038, rs12913832, rs916977, and rs1667394 (Duffy et al. 2007; Sturm et al. 2008; Kayser et al. 2008; Sulem et al. 2007; Mengel-From et al. 2”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Kayser et al. 2008
In the citing paper
“We have shown that the TG allele of BEH2 has a much more restricted global distribution compared to the ACA allele of BEH1 and the CA allele of BEH3, the other two haplotypes published as associated with blue eyes”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Kayser et al. 2008
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Self-citation
Metadata
- Authors
- Kayser, M., Liu, F., Janssens, A. C. J. W., Rivadeneira, F., Lao, O., van Duijn, K., Vermeulen, M., Arp, P., Jhamai, M. M., van IJcken, W. F. J., den Dunnen, J. T., Heath, S., Zelenika, D., Despriet, D. D. G., Klaver, C. C. W., Vingerling, J. R., de Jong, P. T. V. M., Hofman, A., Aulchenko, Y. S., Uitterlinden, A. G., Oostra, B. A., & van Duijn, C. M.
- Affiliations
- Erasmus MC (NL)
- Netherlands Forensic Institute (NL)
- Corresponding author
- Kayser, Manfred
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-02
- Volume
- 82
- Issue
- 2
- Pages
- 411-423
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2427174
- OpenAlex
- W2069491279
- Cited by
- 260
- References
- 49
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 15 · 2023: 11 · 2022: 10 · 2021: 14 · 2020: 14 · 2019: 9 · 2018: 12 · 2017: 13 · 2016: 12 · 2015: 14 · 2014: 12 · 2013: 22 · 2012: 16
- FWCI
- 11.37
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- KNAW research portal (Royal Academy of Art and Sciences (KNAW)) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (acceptedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Pure Amsterdam UMC (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion)
- Funders
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (911-03-012, 175.010.200, 175.010.2005.011, 912-03-014)
- Erasmus Universitair Medisch Centrum Rotterdam
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- iris color, HERC2, OCA2, eye color genetics, single nucleotide polymorphisms, allele frequency clines, forensic identification, Mendelian segregation
- MeSH terms
- Chromosome Mapping, Chromosomes, Human, Pair 15, Eye Color, Gene Expression Regulation, Humans, Netherlands, Polymorphism, Single Nucleotide, Guanine Nucleotide Exchange Factors, Genomics, Membrane Transport Proteins, White People, Ubiquitin-Protein Ligases, Microarray Analysis
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